Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814207C>T , CM000671.2:g.129814207C>T | GRCh38 |
| NC_000009.11:g.132576486C>T , CM000671.1:g.132576486C>T | GRCh37 |
| NC_000009.10:g.131616307C>T | NCBI36 |
| NG_008049.1:g.14956G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.764G>A MANE Select | ENSP00000345719.4:p.Ser255Asn | |
| ENST00000651202.1:c.*32G>A | ENSP00000498222.1:n.*32G>A | |
| ENST00000351698.4:c.764G>A | ENSP00000345719.4:p.Ser255Asn | |
| ENST00000474192.1:n.348G>A | ||
| NM_000113.2:c.764G>A | NP_000104.1:p.Ser255Asn | |
| XR_929731.1:n.1091G>A | ||
| XR_929731.3:n.959G>A | ||
| NM_000113.3:c.764G>A MANE Select | NP_000104.1:p.Ser255Asn |